Xeroderma Pigmentosum

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Annotated Information

Classification and Resources

ID 119
OMIM OMIM:278700;OMIM:278720;OMIM:278730;OMIM:278740;OMIM:278750;OMIM:278760;OMIM:278780;OMIM:610651;
MeSH MSH:D014983;


Xeroderma pigmentosum, or XP, is an autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet (UV) light is deficient: In extreme cases, all exposure to sunlight must be forbidden, no matter how small; as such, individuals with the disease are often colloquially referred to as Children of the Night Multiple basal cell carcinomas (basaliomas) and other skin malignancies frequently occur at a young age in those with XP In fact, metastatic malignant melanoma and squamous cell carcinoma are the two most common causes of death in XP victims This disease involves both sexes and all races, with an incidence of :, in the United States XP is roughly six times more common in Japanese people than in other groups~Normally, damage to DNA in epidermal cells occurs during exposure to UV light The absorption of the high energy light leads to the formation of pyrimidine dimers, namely cyclobutane-pyrimidine dimers and pyrimidine---pyrimidone photoproducts In a healthy, normal human being, the damage is first excised by endonucleases DNA polymerase then repairs the missing sequence, and ligase seals the transaction This process is known as nucleotide excision repair~


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Symptoms include:~Severe sunburn when exposed to only small amounts of sunlight These often occur during a child's first exposure to sunlight~Development of many freckles at an early age~Rough-surfaced growths (solar keratoses), and skin cancers~Eyes that are painfully sensitive to the sun and may easily become irritated, bloodshot and clouded~Blistering or freckling on minimum sun exposure~Spider Veins~Limited growth of hair on chest and legs~Scaly skin~Dry skin~Irregular dark spots on the skin~Corneal ulcerations~

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